Q23E (p.Gln23Glu) variant of ALDH2 (P05091)
Q23E (p.Gln23Glu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- gnomAD 12-111767049-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- CADD 7.46
- PolyPhen-2 0.00
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available